ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly)

dbSNP: rs2134241318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995361 SCV002247738 benign Genitopatellar syndrome 2024-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303532 SCV003992110 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.4514A>G (p.E1505G) alteration is located in exon 18 (coding exon 16) of the KAT6B gene. This alteration results from a A to G substitution at nucleotide position 4514, causing the glutamic acid (E) at amino acid position 1505 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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